I wanted to post an update on Cameron, because a lot has happened with his medical narrative in the past year. After Cameron had an inconclusive nerve conduction test last August (https://drknight-kinesiology.blogspot.com/2017/08/congenital-myasthenia-and-myopathy.html), we met with a geneticist at UMMC, Dr. McDonald. She wanted to go ahead and run the genetic test for congenital myasthenia, which you can read about in a previous post. This test came back normal, which didn't completely rule out the condition, but meant he didn't have the specific type they tested for. The next step was to run a complete genome sequence on Cameron where they essentially look at his entire genetic code (at least everything they currently know, which is constantly changing). They also took blood from both Amy and me in case they found a genetic mutation, they could see if it came from one of us. This was done back in January, and we found out in April that Cameron has a pathogenic mutation of the BCL11A gene. After four years of testing, we finally have a diagnosis. Both Cameron's geneticist and neurologist were happy to finally have an answer, but there are only 12 reported cases of this mutation, so we still do not have a lot of information. The other children with this mutation also have developmental delays with their fine and gross motor skills, hypotonia, and seizures. The other children also have some distinct facial features, speech apraxia, and cognitive delays, which Cameron does not have. Both Amy and I were negative for the mutation, which means the gene spontaneously mutated in Cameron, probably during his fetal development. As more cases of this mutation are found and research is conducted, they should learn more information about it to help with the treatment. Cameron still suffers from muscle weakness, fatigue, ataxia (lack of coordination), and motor planning difficulties. We are so thankful for the pediatric therapy services he receives here in Starkville at Kids Therapy Spot and at school, and he also completed several weeks of aquatic therapy at Columbus Orthopaedic this summer, which he loved. Cameron is in the 2nd grade at Henderson-Ward-Stewart, and he continuing to do well academically, but the campus is very large which is a challenge for him from a physical standpoint. We got him a special wheelchair this summer that he is using to help him navigate the school.
He was so excited to finally get the electrodes off his head!
We've also learned some new information regarding Cameron's seizures. Back in February, Cameron had multiple seizures one night that lead us to take him to the Children's Hospital Emergency room in Jackson. This led his neurologist to want to conduct another video EEG in the hospital this summer. He had that done towards the end of July, and what was supposed to be a 3 day hospital stay turned into an all week stay. Cameron was being treated for focal seizures, which happen in localized area of the brain, but during his first night in the hospital, they noticed abnormal spikes of activity on his EEG that were more generalized (occurring all over the brain) in nature, which means he is at a much greater risk for a grand mal seizure. One of the medicines he was taking is good for treating focal seizures, but can make generalized seizures worse. So, they wanted to take him off all his seizure medicines and see what happened to his EEG. It got better once he stopped taking his medicine, but he was still having the generalized spikes. They started him on a new medicine his last night there and it cleaned up his EEG by 75% compared to the first night. He has adjusted well to this medicine and will have to have regular bloodwork while he is on this medicine, but we are hopeful it will help prevent any future seizures. We are very thankful for the treatment we received at Blair Batson during Cameron's time there.
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| Ally, his nurse practitioner, and Dr. Bakdash, his neurologist while he was in the hospital |
I also have to post a couple of pictures of Cameron's sister, Natalie, who is three years old. She is a really
good little sister and she definitely watches out for her big brother!
She has a lot of energy and a very unique personality.
